First case of X-linked dystonia-parkinsonism ("Lubag") to demonstrate a response to bilateral pallidal stimulation.
Identifieur interne : 001D12 ( Ncbi/Merge ); précédent : 001D11; suivant : 001D13First case of X-linked dystonia-parkinsonism ("Lubag") to demonstrate a response to bilateral pallidal stimulation.
Auteurs : Virgilio Gerald H. Evidente [États-Unis] ; Mark K. Lyons ; Mark Wheeler ; Renee Hillman ; Luann Helepolelei ; Froukje Beynen ; Dagmar Nolte ; Ulrich Müller ; Philip A. StarrSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- MESH :
- genetics : Parkinson Disease.
- pathology : Genetic Diseases, X-Linked, Parkinson Disease.
- physiopathology : Globus Pallidus.
- radiation effects : Globus Pallidus.
- therapy : Genetic Diseases, X-Linked, Parkinson Disease.
- Electric Stimulation Therapy, Humans, Male, Middle Aged.
Abstract
"Lubag" or X-linked dystonia-parkinsonism (XDP) is a genetic syndrome afflicting Filipino men. Intracranial surgical procedures for Lubag have been unsuccessful. We report a 45-year-old Filipino male with genetically confirmed XDP who underwent bilateral pallidal deep brain stimulation (DBS) surgery. The patient started to exhibit improvement on initial programming, most notably of his severe jaw-opening dystonia. At 1-year follow-up, his Burke-Fahn-Marsden dystonia score and motor Unified Parkinson's Disease Rating Scale score were improved by 71% and 62%, respectively, with the stimulators on compared to stimulators off state. Bilateral pallidal DBS may be a viable option for Lubag patients with medically refractory symptoms.
DOI: 10.1002/mds.21420
PubMed: 17579361
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Lyons</name></author><author><name sortKey="Wheeler, Mark" sort="Wheeler, Mark" uniqKey="Wheeler M" first="Mark" last="Wheeler">Mark Wheeler</name></author><author><name sortKey="Hillman, Renee" sort="Hillman, Renee" uniqKey="Hillman R" first="Renee" last="Hillman">Renee Hillman</name></author><author><name sortKey="Helepolelei, Luann" sort="Helepolelei, Luann" uniqKey="Helepolelei L" first="Luann" last="Helepolelei">Luann Helepolelei</name></author><author><name sortKey="Beynen, Froukje" sort="Beynen, Froukje" uniqKey="Beynen F" first="Froukje" last="Beynen">Froukje Beynen</name></author><author><name sortKey="Nolte, Dagmar" sort="Nolte, Dagmar" uniqKey="Nolte D" first="Dagmar" last="Nolte">Dagmar Nolte</name></author><author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name></author><author><name sortKey="Starr, Philip A" sort="Starr, Philip A" uniqKey="Starr P" first="Philip A" last="Starr">Philip A. Starr</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21420</idno><idno type="RBID">pubmed:17579361</idno><idno type="pmid">17579361</idno><idno type="wicri:Area/PubMed/Corpus">002627</idno><idno type="wicri:Area/PubMed/Curation">002627</idno><idno type="wicri:Area/PubMed/Checkpoint">002814</idno><idno type="wicri:Area/Ncbi/Merge">001D12</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">First case of X-linked dystonia-parkinsonism ("Lubag") to demonstrate a response to bilateral pallidal stimulation.</title><author><name sortKey="Evidente, Virgilio Gerald H" sort="Evidente, Virgilio Gerald H" uniqKey="Evidente V" first="Virgilio Gerald H" last="Evidente">Virgilio Gerald H. Evidente</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Mayo Clinic, Scottsdale, Arizona 85259, USA. evidente.virgilio@mayo.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Scottsdale, Arizona 85259</wicri:regionArea><wicri:noRegion>Arizona 85259</wicri:noRegion></affiliation></author><author><name sortKey="Lyons, Mark K" sort="Lyons, Mark K" uniqKey="Lyons M" first="Mark K" last="Lyons">Mark K. Lyons</name></author><author><name sortKey="Wheeler, Mark" sort="Wheeler, Mark" uniqKey="Wheeler M" first="Mark" last="Wheeler">Mark Wheeler</name></author><author><name sortKey="Hillman, Renee" sort="Hillman, Renee" uniqKey="Hillman R" first="Renee" last="Hillman">Renee Hillman</name></author><author><name sortKey="Helepolelei, Luann" sort="Helepolelei, Luann" uniqKey="Helepolelei L" first="Luann" last="Helepolelei">Luann Helepolelei</name></author><author><name sortKey="Beynen, Froukje" sort="Beynen, Froukje" uniqKey="Beynen F" first="Froukje" last="Beynen">Froukje Beynen</name></author><author><name sortKey="Nolte, Dagmar" sort="Nolte, Dagmar" uniqKey="Nolte D" first="Dagmar" last="Nolte">Dagmar Nolte</name></author><author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name></author><author><name sortKey="Starr, Philip A" sort="Starr, Philip A" uniqKey="Starr P" first="Philip A" last="Starr">Philip A. Starr</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Electric Stimulation Therapy</term><term>Genetic Diseases, X-Linked (pathology)</term><term>Genetic Diseases, X-Linked (therapy)</term><term>Globus Pallidus (physiopathology)</term><term>Globus Pallidus (radiation effects)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (pathology)</term><term>Parkinson Disease (therapy)</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Genetic Diseases, X-Linked</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Globus Pallidus</term></keywords><keywords scheme="MESH" qualifier="radiation effects" xml:lang="en"><term>Globus Pallidus</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Genetic Diseases, X-Linked</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Electric Stimulation Therapy</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">"Lubag" or X-linked dystonia-parkinsonism (XDP) is a genetic syndrome afflicting Filipino men. Intracranial surgical procedures for Lubag have been unsuccessful. We report a 45-year-old Filipino male with genetically confirmed XDP who underwent bilateral pallidal deep brain stimulation (DBS) surgery. The patient started to exhibit improvement on initial programming, most notably of his severe jaw-opening dystonia. At 1-year follow-up, his Burke-Fahn-Marsden dystonia score and motor Unified Parkinson's Disease Rating Scale score were improved by 71% and 62%, respectively, with the stimulators on compared to stimulators off state. Bilateral pallidal DBS may be a viable option for Lubag patients with medically refractory symptoms.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17579361</PMID><DateCreated><Year>2007</Year><Month>10</Month><Day>01</Day></DateCreated><DateCompleted><Year>2008</Year><Month>01</Month><Day>09</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>22</Volume><Issue>12</Issue><PubDate><Year>2007</Year><Month>Sep</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>First case of X-linked dystonia-parkinsonism ("Lubag") to demonstrate a response to bilateral pallidal stimulation.</ArticleTitle><Pagination><MedlinePgn>1790-3</MedlinePgn></Pagination><Abstract><AbstractText>"Lubag" or X-linked dystonia-parkinsonism (XDP) is a genetic syndrome afflicting Filipino men. Intracranial surgical procedures for Lubag have been unsuccessful. We report a 45-year-old Filipino male with genetically confirmed XDP who underwent bilateral pallidal deep brain stimulation (DBS) surgery. The patient started to exhibit improvement on initial programming, most notably of his severe jaw-opening dystonia. At 1-year follow-up, his Burke-Fahn-Marsden dystonia score and motor Unified Parkinson's Disease Rating Scale score were improved by 71% and 62%, respectively, with the stimulators on compared to stimulators off state. Bilateral pallidal DBS may be a viable option for Lubag patients with medically refractory symptoms.</AbstractText><CopyrightInformation>(c) 2007 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Evidente</LastName><ForeName>Virgilio Gerald H</ForeName><Initials>VG</Initials><AffiliationInfo><Affiliation>Department of Neurology, Mayo Clinic, Scottsdale, Arizona 85259, USA. evidente.virgilio@mayo.edu</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lyons</LastName><ForeName>Mark K</ForeName><Initials>MK</Initials></Author><Author ValidYN="Y"><LastName>Wheeler</LastName><ForeName>Mark</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Hillman</LastName><ForeName>Renee</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Helepolelei</LastName><ForeName>Luann</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Beynen</LastName><ForeName>Froukje</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Nolte</LastName><ForeName>Dagmar</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Müller</LastName><ForeName>Ulrich</ForeName><Initials>U</Initials></Author><Author ValidYN="Y"><LastName>Starr</LastName><ForeName>Philip A</ForeName><Initials>PA</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D004599">Electric Stimulation Therapy</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D040181">Genetic Diseases, X-Linked</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000628">therapy</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005917">Globus Pallidus</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000503">physiopathology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000528">radiation effects</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000628">therapy</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>6</Month><Day>21</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2008</Year><Month>1</Month><Day>10</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>6</Month><Day>21</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21420</ArticleId><ArticleId IdType="pubmed">17579361</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country></list><tree><noCountry><name sortKey="Beynen, Froukje" sort="Beynen, Froukje" uniqKey="Beynen F" first="Froukje" last="Beynen">Froukje Beynen</name><name sortKey="Helepolelei, Luann" sort="Helepolelei, Luann" uniqKey="Helepolelei L" first="Luann" last="Helepolelei">Luann Helepolelei</name><name sortKey="Hillman, Renee" sort="Hillman, Renee" uniqKey="Hillman R" first="Renee" last="Hillman">Renee Hillman</name><name sortKey="Lyons, Mark K" sort="Lyons, Mark K" uniqKey="Lyons M" first="Mark K" last="Lyons">Mark K. Lyons</name><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name><name sortKey="Nolte, Dagmar" sort="Nolte, Dagmar" uniqKey="Nolte D" first="Dagmar" last="Nolte">Dagmar Nolte</name><name sortKey="Starr, Philip A" sort="Starr, Philip A" uniqKey="Starr P" first="Philip A" last="Starr">Philip A. Starr</name><name sortKey="Wheeler, Mark" sort="Wheeler, Mark" uniqKey="Wheeler M" first="Mark" last="Wheeler">Mark Wheeler</name></noCountry><country name="États-Unis"><noRegion><name sortKey="Evidente, Virgilio Gerald H" sort="Evidente, Virgilio Gerald H" uniqKey="Evidente V" first="Virgilio Gerald H" last="Evidente">Virgilio Gerald H. Evidente</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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